We had a visit to the geneticist last week. It had been 18 months since Star had screamed the place down while they took her blood for testing. Thankfully long enough for Star not to be too anxious about her last visit.
We had a letter some six months after her last visit saying that her test results were clear. So today’s visit was just a follow up, a chance to chat with the Dr about the results and what would happen next.
It started well. Yes, the results were clear and the dr just wanted to ask some questions. Star was quite responsive, she told her she’d got a 7 in her English test when she was only expecting a 5. She hadn’t told me that, even though I always ask her about school.
Then she went in for her examination, height, weight, arm span, hypermobility tests. Nothing she hadn’t done before. Although she’d grown quite a lot in the last 18 months. The Dr took photographs of her hands, feet, spine and face for her records. I liked that she was being thorough, happy in the knowledge that she had nothing seriously wrong with her.
Then came the bombshell.
We went back to the other room to talk again. Star was becoming irritable by now and not so chatty. Well, unless asking ‘are we done yet’ every two minutes counts.
So, the tests showed that the febrillin gene was not mutated, but, there are 3000 different mutations of the gene and not all the tests were done. So, the Dr wanted my permission to test her genes again. Star became agitated until it was explained that no further blood needed to be taken.
As well as gene mutations, the Dr wanted to check for chromosomes. I’m no doctor so I don’t know the ins and outs, but basically she told me that she believed that Star had Marfan Syndrome and not Elhers Danlos Syndrome which is what she is diagnosed with.
Star has a lot of the skeletal signs of Marfan Syndrome and may have family history as both myself and her older sister have skeletal signs too. This could be enough for diagnosis even without the gene mutation.
Stars future can still be okay, people can live with Marfan Syndrome all their life and not even know it. But, it can have implications, especially with the eyes and the aorta. It is also something that may not start to cause problems until the teens, and Star is just thirteen.
The next steps will be more testing and extra care for Star. She will be having regular heart and eye examinations to detect any problems quickly. She will have her genes tested again to see if anything else shows up. There is also the possibility of the rest of the family being tested too to find any links.
My poor girl has already been through so much; she’s had pain since she was born, she had to endure the subluxation of her neck and several trips to theatre, twice she has had to wear a halo brace, she has many subluxations and dislocations due to her connective tissue disorder and just to top it off she has autism too.
She laughs a lot though, and loves going to school where she connects with other children like her. When she was told she was going to have another ECG she instantly reported that her school friend had to have them every year too. She doesn’t feel different, she doesn’t mind. And when she’s in pain she rarely complains. She really is a Star.
Gosh, she really is a Star. And you, Anne
Well I hope you get to the bottom of things. Well done to Star for taking things in her stride.
What a shock for you all.
I suppose at least they have found out Marfan Syndrome now and are able to keep an eye on your girl so anything is picked up quickly..
She really is a Star! x
What an inspirational young woman! I’ve never heard of Marfan Syndrome but it doesn’t sound easy to deal with at all! #MMBC
I have no words other then to say what a brave girl you have, a true inspiration X #mmbc
Cheering you on, and Star too! Hoping and praying the very best for the future. x
She’s been through so much, bless her. Start is definitely an appropriate name x
Oh gosh what a shock changing diagnosis must be. Sounds like you are all handling it really well. Huge hugs xx
Wishing her luck on this new stage of her journey. xx (And you!)
What a star she is. I really hope you get to the bottom of it. xx